Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in
✦ LIBER ✦
Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation
✍ Scribed by Luka A. Clarke; Isabel Veiga; Gloria Isidro; Peter Jordan; José Silva Ramos; Sergio Castedo; Maria Guida Boavida
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 79 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1045-2257
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